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3. Mild fumarase deficiency and a trial of low protein diet.

Author

Kimonis, VE, Kimonis, VE, Steller, J, Sahai, I, Grange, DK, Shoemaker, J, Zelaya, BM, Mandell, R, Shih, K, Shih, V, Kimonis, VE, Kimonis, VE, Steller, J, Sahai, I, Grange, DK, Shoemaker, J, Zelaya, BM, Mandell, R, Shih, K, and Shih, V

Abstract

We report clinical findings in a 12-year-old girl with a mild case of fumarase deficiency who continues to make progress. She has two novel mutations of the fumarase gene [c.521C>G (p.P174R) and c.908T>C (p.L303S)]. A trial of low protein diet did not reduce fumaric aciduria.

Published
2012

4. Mild fumarase deficiency and a trial of low protein diet.

Author

Kimonis, VE, Kimonis, VE, Steller, J, Sahai, I, Grange, DK, Shoemaker, J, Zelaya, BM, Mandell, R, Shih, K, Shih, V, Kimonis, VE, Kimonis, VE, Steller, J, Sahai, I, Grange, DK, Shoemaker, J, Zelaya, BM, Mandell, R, Shih, K, and Shih, V

Abstract

We report clinical findings in a 12-year-old girl with a mild case of fumarase deficiency who continues to make progress. She has two novel mutations of the fumarase gene [c.521C>G (p.P174R) and c.908T>C (p.L303S)]. A trial of low protein diet did not reduce fumaric aciduria.

Published
2012

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